Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, P. S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs
*Korrespondierende/r Autor/-in für diese Arbeit
- MRC HumanGenetics Unit
- University of Edinburgh
- University of Zaragoza
- University Clinic Hospital 'Lozano Blesa'
- University of Pennsylvania
- Laboratory of Genome Structure and Function
- Universität Tokio
- Victorian Clinical Genetics Service
- Murdoch Children's Research Institute
- University of Melbourne
- Stanford University
- Department of Mathematics and Statistics
- Bioinformatics Division
- Radboud-Universität Nijmegen
- Universitari Vall d'Hebrón
- Department of Life Science
- Universitat Pompeu Fabra
- CIBERER, Instituto de Salud Carlos III (ISCIII)
- Technische Universität Dresden
- Department of Medical Biology
- University of Ottawa
- Department of Obstetrics and Gynecology
- Medical University of Warsaw
- Unidad de Genética Médica y Dismorfología
- Hospital Virgen de la Arrixaca
- Universidad de Murcia
- Institute of Child Health
- University of Kentucky
- University of Amsterdam
- Department of Medical Genetics
- Alberta Children's Hospital
- The Harvey Institute forHumanGenetics
- Johns Hopkins University
- Children's University Hospital
- Department of Pathology and Laboratory Medicine
- David Geffen School of Medicine at UCLA
- Genetic Services
- Group Health Cooperative
- Our Lady's Children's Hospital
- National Centre for Medical Genetics
- Istituto di Ricerca Genetica eBiomedica
- Department of Genetic Medicine
- Belfast Health and Social Care Trust
- Department of Clinical Genetics
- Addenbrooke's Hospital
- Care Rare Canada Consortium
- ClinicalGenetics Service
- University College London
- NYU Hospital for Joint Diseases
- University of Antwerp
- MAB Institute
- Medical Genetics Department
- CHLC and Medical Sciences Faculty of Lisbon
- Columbia University in the City of New York
- Department ofPediatrics
- Dalhousie University
- Unidad deDismorfología y Genética Reproductiva
- Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)
- University of Brussels
- Université Catholique de Louvain
- Baylor College of Medicine
- Medical Genetics Institute
- Cedars-Sinai Medical Center
- Tesserae Genetics, Texas
- Maritime Medical Genetics Service
- IWK Health Centre
- University of Western Ontario
- Christian-Albrechts Universität zu Kiel
- Gendia, Antwerp 2020
- Department of Pediatrics
- Department of Hematology
- Department of Oncology
- Department of Endocrinology and General Nursery
- Medical University of Gdańsk
- Drexel University College of Medicine
- Japan Science and Technology Agency
- Sektion für Funktionelle Genetik
- Department of Pediatrics
- Department of Pharmacology-Physiology
- Unit of Clinical Genetics and Functional Genomics
- Genetics Clinic
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